Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.

abstract：:Ubiquitination of the replication clamp proliferating cell nuclear antigen (PCNA) at the conserved residue lysine (K)164 triggers postreplicative repair (PRR) to fill single-stranded gaps that result from stalled DNA polymerases. However, it has remained elusive as to whether cells engage PRR in response to replicatio...

journal_title：PLoS genetics

authors： Becker JR,Pons C,Nguyen HD,Costanzo M,Boone C,Myers CL,Bielinsky AK

更新日期：2015-11-06 00:00:00

abstract：:The ribonuclease III enzyme Drosha has a central role in the biogenesis of microRNA (miRNA) by binding and cleaving hairpin structures in primary RNA transcripts into precursor miRNAs (pre-miRNAs). Many miRNA genes are located within protein-coding host genes and cleaved by Drosha in a manner that is coincident with s...

journal_title：PLoS genetics

authors： Havens MA,Reich AA,Hastings ML

更新日期：2014-05-01 00:00:00

abstract：:Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephroli...

journal_title：PLoS genetics

authors： Urabe Y,Tanikawa C,Takahashi A,Okada Y,Morizono T,Tsunoda T,Kamatani N,Kohri K,Chayama K,Kubo M,Nakamura Y,Matsuda K

更新日期：2012-01-01 00:00:00

abstract：:Species barriers, expressed as hybrid inviability and sterility, are often due to epistatic interactions between divergent loci from two lineages. Theoretical models indicate that the strength, direction, and complexity of these genetic interactions can strongly affect the expression of interspecific reproductive isol...

journal_title：PLoS genetics

authors： Guerrero RF,Muir CD,Josway S,Moyle LC

更新日期：2017-06-12 00:00:00

abstract：:At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the instability process remain undefined. Genomic fragments from the human s...

journal_title：PLoS genetics

authors： Libby RT,Hagerman KA,Pineda VV,Lau R,Cho DH,Baccam SL,Axford MM,Cleary JD,Moore JM,Sopher BL,Tapscott SJ,Filippova GN,Pearson CE,La Spada AR

更新日期：2008-11-01 00:00:00

abstract：:During development, proper differentiation and final organ size rely on the control of territorial specification and cell proliferation. Although many regulators of these processes have been identified, how both are coordinated remains largely unknown. The homeodomain Iroquois/Irx proteins play a key, evolutionarily c...

journal_title：PLoS genetics

authors： Barrios N,González-Pérez E,Hernández R,Campuzano S

更新日期：2015-08-25 00:00:00

abstract：:Zn²(+)-finger proteins comprise one of the largest protein superfamilies with diverse biological functions. The ATM substrate Chk2-interacting Zn²(+)-finger protein (ASCIZ; also known as ATMIN and ZNF822) was originally linked to functions in the DNA base damage response and has also been proposed to be an essential c...

journal_title：PLoS genetics

authors： Jurado S,Smyth I,van Denderen B,Tenis N,Hammet A,Hewitt K,Ng JL,McNees CJ,Kozlov SV,Oka H,Kobayashi M,Conlan LA,Cole TJ,Yamamoto K,Taniguchi Y,Takeda S,Lavin MF,Heierhorst J

更新日期：2010-10-21 00:00:00

abstract：:Central questions in regenerative biology include how stem cells are maintained and how they transition from self-renewal to differentiation. Germline stem cells (GSCs) in Caeno-rhabditis elegans provide a tractable in vivo model to address these questions. In this system, Notch signaling and PUF RNA binding proteins,...

journal_title：PLoS genetics

authors： Shin H,Haupt KA,Kershner AM,Kroll-Conner P,Wickens M,Kimble J

更新日期：2017-12-12 00:00:00

abstract：:Abnormal accumulation of the microtubule-interacting protein tau is associated with neurodegenerative diseases including Alzheimer's disease (AD). β-amyloid (Aβ) lies upstream of abnormal tau behavior, including detachment from microtubules, phosphorylation at several disease-specific sites, and self-aggregation into ...

journal_title：PLoS genetics

authors： Ando K,Maruko-Otake A,Ohtake Y,Hayashishita M,Sekiya M,Iijima KM

更新日期：2016-03-29 00:00:00

abstract：:The secondary structure of a pre-mRNA influences a number of processing steps including alternative splicing. Since most splicing regulatory proteins bind to single-stranded RNA, the sequestration of RNA into double strands could prevent their binding. Here, we analyzed the secondary structure context of experimentall...

journal_title：PLoS genetics

authors： Hiller M,Zhang Z,Backofen R,Stamm S

更新日期：2007-11-01 00:00:00

abstract：:Differentiating cells interact with their extracellular environment over time. Chondrocytes embed themselves in a proteoglycan (PG)-rich matrix, then undergo a developmental transition, termed "maturation," when they express ihh to induce bone in the overlying tissue, the perichondrium. Here, we ask whether PGs regula...

journal_title：PLoS genetics

authors： Eames BF,Yan YL,Swartz ME,Levic DS,Knapik EW,Postlethwait JH,Kimmel CB

更新日期：2011-08-01 00:00:00

abstract：:The contribution of MEF2 TFs to the tumorigenic process is still mysterious. Here we clarify that MEF2 can support both pro-oncogenic or tumor suppressive activities depending on the interaction with co-activators or co-repressors partners. Through these interactions MEF2 supervise histone modifications associated wit...

journal_title：PLoS genetics

authors： Di Giorgio E,Franforte E,Cefalù S,Rossi S,Dei Tos AP,Brenca M,Polano M,Maestro R,Paluvai H,Picco R,Brancolini C

更新日期：2017-04-18 00:00:00

abstract：:Comparisons between diverse vertebrate genomes have uncovered thousands of highly conserved non-coding sequences, an increasing number of which have been shown to function as enhancers during early development. Despite their extreme conservation over 500 million years from humans to cartilaginous fish, these elements ...

journal_title：PLoS genetics

authors： McEwen GK,Goode DK,Parker HJ,Woolfe A,Callaway H,Elgar G

更新日期：2009-12-01 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:We have recently shown that hypomorphic Mre11 complex mouse mutants exhibit defects in the repair of meiotic double strand breaks (DSBs). This is associated with perturbation of synaptonemal complex morphogenesis, repair and regulation of crossover formation. To further assess the Mre11 complex's role in meiotic progr...

journal_title：PLoS genetics

authors： Adelman CA,Petrini JH

更新日期：2008-03-28 00:00:00

abstract：:Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy. Though the molecular underpinnings of this cancer have been largely unexplored, recurrent chromosomal breakpoints affecting a noncoding region on chr19q13, which includes the chromosome 19 microRNA cluster (C19MC), have been re...

journal_title：PLoS genetics

authors： Setty BA,Jinesh GG,Arnold M,Pettersson F,Cheng CH,Cen L,Yoder SJ,Teer JK,Flores ER,Reed DR,Brohl AS

更新日期：2020-04-20 00:00:00

abstract：:The relationship between population size, inbreeding, loss of genetic variation and evolutionary potential of fitness traits is still unresolved, and large-scale empirical studies testing theoretical expectations are surprisingly scarce. Here we present a highly replicated experimental evolution setup with 120 lines o...

journal_title：PLoS genetics

authors： Ørsted M,Hoffmann AA,Sverrisdóttir E,Nielsen KL,Kristensen TN

更新日期：2019-06-12 00:00:00

abstract：:Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted out...

journal_title：PLoS genetics

authors： Thouvenot P,Ben Yamin B,Fourrière L,Lescure A,Boudier T,Del Nery E,Chauchereau A,Goldgar DE,Houdayer C,Stoppa-Lyonnet D,Nicolas A,Millot GA

更新日期：2016-06-06 00:00:00

abstract：:The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similari...

journal_title：PLoS genetics

authors： Morgan NV,Morris MR,Cangul H,Gleeson D,Straatman-Iwanowska A,Davies N,Keenan S,Pasha S,Rahman F,Gentle D,Vreeswijk MP,Devilee P,Knowles MA,Ceylaner S,Trembath RC,Dalence C,Kismet E,Köseoğlu V,Rossbach HC,Gissen P,

更新日期：2010-02-05 00:00:00

abstract：:Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory mechanism that determines gene expression and hence heritable phenotypic ...

journal_title：PLoS genetics

authors： Tuğrul M,Paixão T,Barton NH,Tkačik G

更新日期：2015-11-06 00:00:00

abstract：:While there has been much recent focus on the ecological causes of adaptive diversification, we know less about the genetic nature of the trade-offs in resource use that create and maintain stable, diversified ecotypes. Here we show how a regulatory genetic change can contribute to sympatric diversification caused by ...

journal_title：PLoS genetics

authors： Spencer CC,Bertrand M,Travisano M,Doebeli M

更新日期：2007-01-19 00:00:00

abstract：:H1 linker histones facilitate higher-order chromatin folding and are essential for mammalian development. To achieve high-resolution mapping of H1 variants H1d and H1c in embryonic stem cells (ESCs), we have established a knock-in system and shown that the N-terminally tagged H1 proteins are functionally interchangeab...

journal_title：PLoS genetics

authors： Cao K,Lailler N,Zhang Y,Kumar A,Uppal K,Liu Z,Lee EK,Wu H,Medrzycki M,Pan C,Ho PY,Cooper GP Jr,Dong X,Bock C,Bouhassira EE,Fan Y

更新日期：2013-01-01 00:00:00

abstract：:CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci, together with cas (CRISPR-associated) genes, form the CRISPR/Cas adaptive immune system, a primary defense strategy that eubacteria and archaea mobilize against foreign nucleic acids, including phages and conjugative plasmids. Short spacer sequen...

journal_title：PLoS genetics

authors： Rho M,Wu YW,Tang H,Doak TG,Ye Y

更新日期：2012-01-01 00:00:00

abstract：:Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation,...

journal_title：PLoS genetics

authors： Esmaeeli-Nieh S,Fenckova M,Porter IM,Motazacker MM,Nijhof B,Castells-Nobau A,Asztalos Z,Weißmann R,Behjati F,Tzschach A,Felbor U,Scherthan H,Sayfati SM,Ropers HH,Kahrizi K,Najmabadi H,Swedlow JR,Schenck A,Kuss AW

更新日期：2016-05-11 00:00:00

abstract：:Rhizobial infection of legume root hairs requires a rearrangement of the actin cytoskeleton to enable the establishment of plant-made infection structures called infection threads. In the SCAR/WAVE (Suppressor of cAMP receptor defect/WASP family verpolin homologous protein) actin regulatory complex, the conserved N-te...

journal_title：PLoS genetics

authors： Qiu L,Lin JS,Xu J,Sato S,Parniske M,Wang TL,Downie JA,Xie F

更新日期：2015-10-30 00:00:00

abstract：:The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene in the Y chromosome have not been completely elucidated, partly owing to difficulties in gene targeting analysis of the Y chromosome. Zfy was first proposed to be a sex determination factor, but its function ...

journal_title：PLoS genetics

authors： Nakasuji T,Ogonuki N,Chiba T,Kato T,Shiozawa K,Yamatoya K,Tanaka H,Kondo T,Miyado K,Miyasaka N,Kubota T,Ogura A,Asahara H

更新日期：2017-01-23 00:00:00

abstract：:The bacterial cell wall, which is comprised of a mesh of polysaccharide strands crosslinked via peptide bridges (peptidoglycan, PG), is critical for maintenance of cell shape and survival. PG assembly is mediated by a variety of Penicillin Binding Proteins (PBP) whose fundamental activities have been characterized in ...

journal_title：PLoS genetics

authors： Dörr T,Lam H,Alvarez L,Cava F,Davis BM,Waldor MK

更新日期：2014-06-19 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 00:00:00

abstract：:Movement of the transcription machinery along a template alters DNA topology resulting in the accumulation of supercoils in DNA. The positive supercoils generated ahead of transcribing RNA polymerase (RNAP) and the negative supercoils accumulating behind impose severe topological constraints impeding transcription pro...

journal_title：PLoS genetics

authors： Ahmed W,Sala C,Hegde SR,Jha RK,Cole ST,Nagaraja V

更新日期：2017-05-02 00:00:00

abstract：:We propose a novel statistical framework for integrating the result from molecular quantitative trait loci (QTL) mapping into genome-wide genetic association analysis of complex traits, with the primary objectives of quantitatively assessing the enrichment of the molecular QTLs in complex trait-associated genetic vari...

journal_title：PLoS genetics

authors： Wen X,Pique-Regi R,Luca F

更新日期：2017-03-09 00:00:00